%0 Journal Article
%T Exome and copy number variation analyses of Mayer每Rokitansky每K邦ster每 Hauser syndrome
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0028-4
%X Mayer每Rokitansky每K邦ster每Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome
%U https://www.nature.com/articles/s41439-018-0028-4